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Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations

Il Tae Hwang, Yusuke Mizuno, Naoko Amano, Hye Jin Lee, Young Suk Shim, Hyo‐Kyoung Nam, Young‐Jun Rhie, Seung Yang, Kee‐Hyoung Lee, Tomonobu Hasegawa, Min Jae Kang

Mol Genet Genomic Med. 2020 Mar; 8(3): e1146. Published online 2020 Jan 20. doi: 10.1002/mgg3.1146

PMCID:: PMC7057090

Abstract Article PDF–890K

Select item 70570872.

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani

Mol Genet Genomic Med. 2020 Mar; 8(3): e1137. Published online 2020 Jan 20. doi: 10.1002/mgg3.1137

PMCID:: PMC7057087

Abstract Article PDF–3.4M

Select item 70271953.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Abstract Article PDF–1.2M

Select item 70168904.

HIF1α/TET1 Pathway Mediates Hypoxia-Induced Adipocytokine Promoter Hypomethylation in Human Adipocytes

Mohamed M. Ali, Shane A. Phillips, Abeer M. Mahmoud

Cells. 2020 Jan; 9(1): 134. Published online 2020 Jan 6. doi: 10.3390/cells9010134

PMCID:: PMC7016890

Abstract Article PDF–2.2M

Select item 69983585.

Epigenetic induction of tumor stemness via the lipopolysaccharide-TET3-HOXB2 signaling axis in esophageal squamous cell carcinoma

Fengkai Xu, Zhonghe Liu, Ronghua Liu, Chunlai Lu, Lin Wang, Wei Mao, Qiaoliang Zhu, Huankai Shou, Kunpeng Zhang, Yin Li, Yiwei Chu, Jie Gu, Di Ge

Cell Commun Signal. 2020; 18: 17. Published online 2020 Feb 3. doi: 10.1186/s12964-020-0510-8

PMCID:: PMC6998358

Abstract Article PDF–7.8M

Select item 69750416.

Improved simultaneous co-fermentation of glucose and xylose by Saccharomyces cerevisiae for efficient lignocellulosic biorefinery

Phuong Hoang Nguyen Tran, Ja Kyong Ko, Gyeongtaek Gong, Youngsoon Um, Sun-Mi Lee

Biotechnol Biofuels. 2020; 13: 12. Published online 2020 Jan 22. doi: 10.1186/s13068-019-1641-2

PMCID:: PMC6975041

Abstract Article PDF–1.3M

Select item 68168497.

Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy

Xihui Chen, Lijuan Yuan, Mao Sun, Qingbo Liu, Yuanming Wu

J Clin Lab Anal. 2018 Jun; 32(5): e22375. Published online 2018 Jan 4. doi: 10.1002/jcla.22375

PMCID:: PMC6816849

Abstract Article PDF–523K

Select item 67955548.

Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations

Emily R. Mason, Fenfen Wu, Reesha R. Patel, Yucheng Xiao, Stephen C. Cannon, Theodore R. Cummins

eNeuro. 2019 Sep-Oct; 6(5): ENEURO.0141-19.2019. Prepublished online 2019 Sep 26. Published online 2019 Oct 15. doi: 10.1523/ENEURO.0141-19.2019

PMCID:: PMC6795554

Abstract Article PDF–2.3M

Select item 67791339.

FUNCTIONAL POLYMORPHISMS IN NRF2: IMPLICATIONS FOR HUMAN DISEASE

Hye-Youn Cho, Jacqui Marzec, Steven R. Kleeberger

Free Radic Biol Med. Author manuscript; available in PMC 2019 Oct 7.

Published in final edited form as: Free Radic Biol Med. 2015 Nov; 88(Pt B): 362–372. Published online 2015 Jun 25. doi: 10.1016/j.freeradbiomed.2015.06.012

PMCID:: PMC6779133

Abstract Article PDF–1.0M

Select item 676770510.

Myocyte enhancer factor‐2 and p300 interact to regulate the expression of homeostatic regulator Pumilio in Drosophila

Wei‐Hsiang Lin, Richard A. Baines

Eur J Neurosci. 2019 Jul; 50(1): 1727–1740. Published online 2019 Feb 21. doi: 10.1111/ejn.14357

PMCID:: PMC6767705

Abstract Article PDF–758K

Select item 675321811.

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life

Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim

Front Neurol. 2019; 10: 988. Published online 2019 Sep 13. doi: 10.3389/fneur.2019.00988

PMCID:: PMC6753218

Abstract Article PDF–761K

Select item 673044612.

Early Expression of Sodium Channel Transcripts and Sodium Current by Cajal-Retzius Cells in the Preplate of the Embryonic Mouse Neocortex

Mireille Albrieux, Jean-Claude Platel, Alain Dupuis, Michel Villaz, William J. Moody

J Neurosci. 2004 Feb 18; 24(7): 1719–1725. doi: 10.1523/JNEUROSCI.3548-02.2004

PMCID:: PMC6730446

Abstract Article PDF–306K

Select item 672953213.

A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline

Kazusaku Kamiya, Makoto Kaneda, Takashi Sugawara, Emi Mazaki, Nami Okamura, Mauricio Montal, Naomasa Makita, Masaki Tanaka, Katsuyuki Fukushima, Tateki Fujiwara, Yushi Inoue, Kazuhiro Yamakawa

J Neurosci. 2004 Mar 17; 24(11): 2690–2698. doi: 10.1523/JNEUROSCI.3089-03.2004

PMCID:: PMC6729532

Abstract Article PDF–416K

Select item 671371914.

Bta-miR-10b Secreted by Bovine Embryos Negatively Impacts Preimplantation Embryo Quality

Xiaoyuan Lin, Krishna Chaitanya Pavani, Katrien Smits, Dieter Deforce, Björn Heindryckx, Ann Van Soom, Luc Peelman

Front Genet. 2019; 10: 757. Published online 2019 Aug 22. doi: 10.3389/fgene.2019.00757

PMCID:: PMC6713719

Abstract Article PDF–2.1M

Select item 670890515.

Comparison of oxcarbazepine efficacy and MHD concentrations relative to age and BMI: Associations among ABCB1, ABCC2, UGT2B7, and SCN2A polymorphisms

Xue Yang, Yuanliang Yan, Shu Fang, Shuangshuang Zeng, Hongying Ma, Long Qian, Xi Chen, Jie Wei, Zhicheng Gong, Zhijie Xu

Medicine (Baltimore) 2019 Mar; 98(12): e14908. Published online 2019 Mar 22. doi: 10.1097/MD.0000000000014908

PMCID:: PMC6708905

Abstract Article PDF–641K

Select item 670691716.

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series

Maryem Sahli, Abdelali Zrhidri, Siham Chafai Elaloui, Wiam Smaili, Jaber Lyahyai, Fatima Zohra Oudghiri, Abdelaziz Sefiani

J Med Case Rep. 2019; 13: 266. Published online 2019 Aug 23. doi: 10.1186/s13256-019-2203-8

PMCID:: PMC6706917

Abstract Article PDF–521K

Select item 670268717.

Different gene expression profiles in subcutaneous & visceral adipose tissues from Mexican patients with obesity

María D. Ronquillo, Alla Mellnyk, Noemí Cárdenas-Rodríguez, Emmanuel Martínez, David A. Comoto, Liliana Carmona-Aparicio, Norma E. Herrera, Eleazar Lara, Armando Pereyra, Esaú Floriano-Sánchez

Indian J Med Res. 2019 May; 149(5): 616–626. doi: 10.4103/ijmr.IJMR_1165_17

PMCID:: PMC6702687

Abstract Article PDF–1.3M

Select item 668761618.

The association between interleukin‐1 polymorphisms and their protein expression in Chinese Han patients with breast cancer

Juan Wang, Yonggang Shi, Gaochao Wang, Shiliang Dong, Daoke Yang, Xiaoxiao Zuo

Mol Genet Genomic Med. 2019 Aug; 7(8): e804. Published online 2019 Jul 11. doi: 10.1002/mgg3.804

PMCID:: PMC6687616

Abstract Article PDF–315K

Select item 666070019.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 663326320.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Aaron R. Jeffries, Reza Maroofian, Claire G. Salter, Barry A. Chioza, Harold E. Cross, Michael A. Patton, Emma Dempster, I. Karen Temple, Deborah J.G. Mackay, Faisal I. Rezwan, Lise Aksglaede, Diana Baralle, Tabib Dabir, Matthew F. Hunter, Arveen Kamath, Ajith Kumar, Ruth Newbury-Ecob, Angelo Selicorni, Amanda Springer, Lionel Van Maldergem, Vinod Varghese, Naomi Yachelevich, Katrina Tatton-Brown, Jonathan Mill, Andrew H. Crosby, Emma L. Baple

Genome Res. 2019 Jul; 29(7): 1057–1066. doi: 10.1101/gr.243584.118

PMCID:: PMC6633263

Abstract Article PDF–888K

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Full text in PMC (nucleotide) for Gene (Select 6326) (127)
PMC
Homo sapiens sodium voltage-gated channel alpha subunit 2 (SCN2A), transcript va...
Homo sapiens sodium voltage-gated channel alpha subunit 2 (SCN2A), transcript variant 3, mRNA
gi|1697699227|ref|NM_001040143.2|

Nucleotide
Homo sapiens sodium voltage-gated channel alpha subunit 2 (SCN2A), transcript va...
Homo sapiens sodium voltage-gated channel alpha subunit 2 (SCN2A), transcript variant 1, mRNA
gi|1697699196|ref|NM_021007.3|

Nucleotide

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